Results 1 to 10 of about 3,656 (51)

Pantothenate Kinase Associated Neurodegeneration in Two Brothers

Acta Médica Portuguesa, 2015
Keywords: Neurodegenerative Diseases; Phosphotransferases (Alcohol Group Acceptor); Siblings.
Bruno Niemeyer de Freitas Ribeiro, Tiago Medina Salata, Lívia de Oliveira Antunes, Beatriz Salata Antunes   +3 more
doaj   +1 more source

Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report. [PDF]

J Med Case Rep, 2023
Ramboux A, Poncelet A, Clapuyt P, Scheers I, Sokal E, Reding R, Stephenne X.   +6 more
europepmc   +1 more source

Ceramide kinase suppresses ferroptosis and protects against alcohol-associated liver disease through the p38 MAPK-HSPB1 pathway. [PDF]

Hepatol Commun
Tao Y, Wang H, Peng Y, Chen Y, Liu X, Qi G, Wang H, Bai L, Qian Y.   +8 more
europepmc   +1 more source

Dual Resistance to Maribavir and Ganciclovir in Transplant Recipients. [PDF]

Viruses
Kleiboeker SB.
europepmc   +1 more source

Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration. [PDF]

PLoS One
Su GL, Jeong SY, Wafai D, Tschetter W, Zhen D, Hayflick SJ, Ryals RC.   +6 more
europepmc   +1 more source

Structural basis for catalysis and selectivity of phospholipid synthesis by eukaryotic choline-phosphotransferase. [PDF]

Nat Commun
Roberts JR, Horibata Y, Kwarcinski FE, Lam V, Raczkowski AM, Hubbard A, White B, Sugimoto H, Tall GG, Ohi MD, Maeda S.   +10 more
europepmc   +1 more source

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis. [PDF]

Mol Genet Genomic Med
Nakamura K, Yatsuka Y, Naito S, Hasegawa A, Kasukawa T, Kondo A, Kishita Y, Sugiyama Y, Onuki T, Ebihara T, Tsuruoka T, Fushimi T, Ohtake A, Murayama K, Imai-Okazaki A, Okazaki Y.   +15 more
europepmc   +1 more source

Immunosuppressive Effects of Multiple Myeloma-Derived Extracellular Vesicles Through T Cell Exhaustion. [PDF]

Cancer Sci
Hagiwara S, Ri M, Ebina T, Marumo Y, Nakamura T, Hirade K, Nakashima T, Asano A, Kinoshita S, Suzuki T, Narita T, Masaki A, Komatsu H, Iida S.   +13 more
europepmc   +1 more source

Loss of Skeletal Muscle Inositol Polyphosphate Multikinase Disrupts Glucose Regulation and Limits Exercise Capacity. [PDF]

Int J Mol Sci
Lee JH, Jung IR, Tu-Sekine B, Jin S, Anokye-Danso F, Ahima RS, Kim SF.   +6 more
europepmc   +1 more source

High Dose C6 Ceramide-Induced Response in Embryonic Hippocampal Cells. [PDF]

Biomolecules
Fiorani F, Mandarano M, Cataldi S, Mirarchi A, Bruscoli S, Ragonese F, Fioretti B, Kobayashi T, Tomishige N, Beccari T, Floridi C, Arcuri C, Albi E.   +12 more
europepmc   +1 more source